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Skeletal dysplasia

Gene: POLR1A

Green List (high evidence)

POLR1A (RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 9 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

characterised by a spectrum of mandibulofacial dysostosis phenotypes with or without extrafacial skeletal defects. At least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrofacial dysostosis, Cincinnati type 616462

Publications

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: POLR1A; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 29 Jul 2016, 12:43 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrofacial dysostosis, Cincinnati type 616462

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Acrofacial dysostosis, Cincinnati type 616462
OMIM
616404
Clinvar variants
Variants in POLR1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Acrofacial dysostosis, Cincinnati type 616462 for gene: POLR1A

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to POLR1A. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462

29 Jul 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for POLR1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jul 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POLR1A were set to 25913037

29 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

POLR1A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

POLR1A was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

POLR1A was added to Unexplained skeletal dysplasiapanel. Sources: